Congenital Cns Primitive Neuroectodermal Tumor: Case Report and Review of the Literature

A 30-week gestational age male fetus was found to have a congenital neoplasm involving the posterior cranial fossa, identified by fetal ultrasound examination in utero. Histological and immunohistochemical examination confirmed a diagnosis of primitive neuroectodermal tumor (PNET) of the posterior fossa, also referred to as medulloblastoma. Although PNETs have been well documented, there are relatively few reports of these occurring as congenital neoplasms. We present a case of an in utero, congenital PNET with a review of the literature and discussion of the criteria defining congenital tumors.     

Rare association of polysplenia with anencephaly

ABSTRACT  Anencephaly is usually observed without association of severe malformations of other organs. A case of polysplenia, which was experienced in a 20-week-old anencephalic female fetus, was reported. The families of the parents had no history of neural tube defects. There was no consanguinity between the parents. The fetus showed a typical anencephaly with absent cranial vault, exophthalmus, hyperplastic thymus and hypoplastic adrenals. There was an atypical polysplenia consisting of five small spleens, absent gall bladder, short pancreas, small intestinal atresia and Fallot tetralogy. No visceral heterotaxy was observed in bronchi, lungs, liver or stomach. Though no direct association has been recognized between anencephaly and polysplenia, recent progresses in the studies of human fetuses and animal experiments help explain the relationship between anencephaly and heterotaxy syndrome. The mother of the present fetus had no history of hyperthermia, drug take or diabetes mellitus. She also had no infections such as virus and toxoplasma before and during pregnancy. There were no clues that would elucidate the etiology of the present anencephalic fetus with polysplenia. Precise surveillance and records of such cases should be advisable.     

Ultrasound detection of posterior fossa abnormalities in full-term neonates

Routine cranial ultrasonography, using the anterior fontanelle as acoustic window enables visualization of the supratentorial brain structures in neonates and young infants. The mastoid fontanelle enables a better view of the infratentorial structures, especially cerebellar hemorrhage in preterm infants. Reports on the usefulness and reliability of cranial ultrasonography using the mastoid fontanelle approach for the detection of posterior fossa abnormalities, focusing only on full-term neonates are limited. This article describes the technique of mastoid fontanelle ultrasonography in full-term neonates and the features of posterior fossa abnormalities that may be encountered in various neonatal disorders and conditions, combined with subsequent MRI in the same patients. Cranial ultrasound through the mastoid fontanelle plays a pivotal role in the early detection of posterior fossa pathology and selection of neonates with an indication for MRI.     

Posterior cranial fossa dermoid in association with craniovertebral and cervical spinal anomaly: report of two cases

Two patients, a 12-year-old girl and an 8-year-old boy, with congenital craniovertebral anomaly and Klippel-Feil syndrome also had a posterior cranial fossa dermoid. The association of these two discrete pathological lesions in the same individual is extremely rare. As both lesions are related to an embryological disorder, issues regarding the possible stage of dysgenesis are analyzed. The treatment options in such cases are discussed.     

Primary nerve repair following resection of a neurenteric cyst of the oculomotor nerve

Neurenteric cysts are rare congenital lesions of endodermal origin occurring in the spinal canal and infrequently in the posterior cranial fossa. The authors report the case of a 3-year-old child who presented with a recurrent third cranial nerve palsy. Magnetic resonance imaging showed a large cystic mass lesion in the ambient cistern on the right side, with compression of the anterolateral aspect of the brainstem. The patient underwent a craniotomy, complete excision, and a primary third cranial nerve repair. While there have been 3 reported cases of neurenteric cysts arising from the oculomotor nerve, this is the first documented case with a primary nerve repair.     

Practical guide to neonatal cranial ultrasound (CrUS): basics

Cranial ultrasonography is a reliable and readily available tool for neonatal brain imaging. It has become indispensable in the care of neonates as it helps to detect common congenital and acquired brain abnormalities. The use of modern ultrasound scan machines with the appropriate choice of probes, settings and acoustic windows has improved the diagnostic value of the cranial ultrasound in experienced hands.The standard acoustic window for imaging is the anterior fontanelle which is suitable for viewing the supratentorial structures. However, supplementary acoustic windows can be used for better visualisation of brain stem and posterior fossa structures. Doppler studies help to assess flow velocities in major vessels. Though cranial ultrasound has numerous advantages, it has some limitations.This article reviews the practical aspects of performing cranial ultrasound in a neonate.     

Childhood intracranial neoplasms: supra versus infratentorial location

Over a 14 yr period, our clinical experience included 92 intracranial neoplasms in children. 53.1 percent of these neoplasms were located supratentorially, while 46 percent were in an infratentorial location. The time honoured concept of predominance of posterior cranial fossa neoplasms, in childhood central nervous system neoplasia, needs revision.     

Anencephaly: MRI findings and pathogenetic theories

We describe the MRI appearances of an anencephalic newborn who survived for 13 h; particularities of this case are male gender and the absence of other associated malformations. Moreover, we discuss the pathogenetic theories of anencephaly, correlating MRI findings with embryological data. An exencephaly–anencephaly sequence due to amnion rupture is hypothesized.Presented as a poster at the 25th Congress of the European Society of Neuroradiology, Vienna, 7–11 September 1999.     

Posterior fossa dermoid cyst in a patient with Goldenhar syndrome

A 7-year-old boy with Goldenhar syndrome was diagnosed to have a posterior cranial fossa dermoid cyst. The presence of such a combination of clinical entities has not been reported earlier. The embryonic dysgenesis causing midline posterior fossa dermoid and other anomalies observed in Goldenhar syndrome occur between the third and fifth week of intrauterine life and are probably interrelated. This report emphasizes the need for a high index of suspicion and the value of cranial imaging in a case with Goldenhar syndrome.     

小儿后颅窝肿瘤的临床特点与误诊分析

目的探讨小儿后颅窝肿瘤的临床特点及误诊原因。方法回顾性分析63例小儿后颅窝肿瘤的临床症状、体征和影像学表现。结果本组主要症状和体征为头痛、呕吐、步态不稳、颈强直、躯体共济失调和头围异常增大,其中25例误诊为病毒性脑炎,16例误诊为急性脑脊髓膜炎,12例误诊为急性胃肠炎。CT检查阳性率为96.8%,MRI阳性率为100%,MRI定性诊断准确率为85.7%。结论小儿后颅窝肿瘤临床症状不典型,早期体征不明显,采取有效的影像学检查措施有助于减少或避免误诊。     

Ultrasonic measurements of the posterior cranial fossa structures in neonates and infants

The structures in the posterior cranial fossa of neonates and infants were visualized ultrasonically via the anterior fontanelle. The diamters of the cerebellar vermis, pons, fourth ventricle and cisterna vermis were measured in the midsagittal plane in neonates (n=76), 1-month-old infants (n=61) and 3-to-6-month-old infants (n=35). The normal values obtained will be useful for evaluation of morphological abnormalities in the posterior cranial fossa.     

Fully endoscopic supraorbital resection of congenital middle cranial fossa arachnoid cysts: report of 2 cases

Intracranial congenital arachnoid cysts are benign intra-arachnoidal fluid collections with a wall composed of arachnoid cells encompassing a cavity containing a fluid similar to cerebrospinal fluid. This cavity frequently communicates with the subarachnoid space. Arachnoid cysts are reported to account for about 1% of all intracranial space-occupying lesions. The most frequent localization of congenital intracranial arachnoid cysts is in the middle cranial fossa, constituting more than half of the cases reported in the literature. We report our use of a fully endoscopic supraorbital approach through the eyebrow for accessing and resecting congenital middle cranial fossa arachnoid cysts. The approach was performed on 2 patients, a 9-month-old infant and a 12-year-old female patient. In both cases, the cysts were resected in their entirety utilizing a 1-cm 'keyhole' craniotomy, without the need for a corticotomy and with virtually no brain retraction. The outcomes were favorable and both patients were discharged from hospital within 48 h of surgery. There were no perioperative complications and the cosmetic outcomes were excellent.     

Moebus syndrome: apropos of a case

The authors describe one case of Moebius syndrome in a neonate; the syndrome is uncommon. It includes congenital oculofacial palsy and limb malformations; other cranial nerves are sometimes involved. The etiology is unknown: genetic or embryopathic (infection or toxic). Pathogeny is unclear: nervous or muscular aplasia; neurocristopathy or dysgenesis of the two first branchial arches. The treatment is medical and chirurgical.     

Long-term studies of children following therapy of brain tumors using nuclear magnetic resonance tomography and ultrasound

Within two and a half years 82 magnetic resonance imaging and 155 ultrasound examinations were performed in 46 children after treatment for brain tumors. In 42 cases the primary tumors were located in the posterior cranial fossa. Magnetic resonance imaging required sedation in 14 and anesthesia in 3 children. In 6 cases ultrasound was insufficient due to partial closure of the calvarian defect. In the remaining cases ultrasound was falsely negative in two cases, and falsely positive in one case. Magnetic resonance imaging was falsely negative in one case. Sequelae of chemo- and radiotherapy were only depicted by magnetic resonance imaging. For follow-up of tumors of the posterior cranial fossa after surgical treatment ultrasound is the method of choice.     

A family with one child with acrocallosal syndrome,one child with anencephaly-polydactyly,and parental consanguinity

A 2-year-old boy with typical features of the acrocallosal syndrome is presented. His parents are first degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral postaxial polydactyly of the hands. The possibility of including anencephaly in the spectrum of the CNS malformations of the acrocallosal syndrome is suggested.     

Endocrine glands in anencephaly

Summary Geographic and ethnic differences influence the incidence of anencephaly. This study was undertaken to assess the influence of such differences on the endocrine defects associated with anencephaly. All endocrine and exo-endocrine glands of ten human anencephalic monsters, conceived and born of South Indian parents in South India, and control specimens were subjected to microanatomical examination. The gonads were not found to be hypoplastic or reduced in weight even in a single case. It has been suggested that this discrepancy in gonadal findings may be due to climatic or ethnic differences. From the Department of Anatomy, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondichery-6.     

Encephalocele (cerebellocele) in the Goldenhar-Gorlin syndrome

A patient with unilateral preauricular appendages and occipital mass is described who died on the fifth day of life. An autopsy demonstrated congenital megabladder and megaureters and dysplastic kidneys. The neuropathological examination revealed cranium bifidum in the occipital region, defective posterior arch of the C1 vertebral body, agenesis of vermis and a large cerebellocele. It is suggested that some patients with the Goldenhar-Gorlin syndrome may have prominent central nervous system involvement in spite of only relatively slight facial involvement.     

Risk factors and ultrasonographic profile of posterior fossa haemorrhages in preterm infants

Aims:   While preterm infants are known to be at risk of intracranial haemorrhages, advances in ultrasound imaging of preterm babies have facilitated recognition of presence of haemorrhages in the posterior fossa, which include cerebellar and Cisterna Magna haemorrhages. There are limited data on the profile and predisposing risk factors. The objective was to identify antenatal, intrapartum and post-natal risk factors for and to define the clinical spectrum.
The study was designed as a retrospective case-control study in the setting of a tertiary level neonatal intensive care unit. Preterm babies ≤30 weeks gestation age admitted between January 2005 and December 2006, with an ultrasound diagnosis of posterior fossa haemorrhage and an equal number of controls matched for gestation age, gender and month of birth with normal cranial scans were selected. Systematic chart and radiographic review was done. All cranial ultrasounds in both groups were reviewed.
Results:   Eighteen babies had documented posterior fossa haemorrhage (13 cerebellar, 5 isolated Cisterna Magna, 10 both), the median time of detection being 2.5 days. Eleven babies had either no or grade I/II supratentorial bleeds, while half of all cerebellar bleeds were bilateral. All haemorrhages were visualised from mastoid view and none from anterior fontanel. On univariate analysis, multiple gestations, lack of antenatal steroids, foetal heart rate abnormalities, need for volume expanders and cardiotrophins and sepsis were associated with a higher risk for having posterior fossa bleeds.
Conclusions:   Posterior fossa haemorrhages in preterm babies are being increasingly recognised. Antenatal, intrapartum and post-natal factors may predispose towards haemorrhages in the cerebellum or Cisterna Magna.     

Cardiorespiratory fitness in survivors of pediatric posterior fossa tumor

Advances in medical therapies have greatly improved survivorship rates in children diagnosed with brain tumor; as a result, morbidities associated with survivorship have become increasingly important to identify and address. In general, pediatric posterior fossa tumor survivors tend to be less physically active than peers. This may be related to late effects of diagnosis and treatment, including cardiovascular, endocrine, psychological, and neurocognitive difficulties. Exercise has been shown to be effective in improving physical functioning, mood, and even cognitive functioning. Consequently, the benefits of physical exercise need to be explored and incorporated into the daily lives of pediatric posterior fossa tumor survivors. The primary aim of the present study was to establish the feasibility and safety of cardiorespiratory fitness testing in pediatric posterior fossa tumor survivors who had received cranial radiation therapy. In addition, comparing our cohort with previously published data, we found that pediatric posterior fossa tumor survivors tended to be less fit than children with pulmonary disease and healthy controls and approximately as fit as children with chronic heart disease and survivors of other types of childhood cancer. The importance of cardiorespiratory fitness in pediatric posterior fossa tumor survivors is discussed along with implications for future directions.     

Abnormalities of the central nervous system in the area of the posterior cranial fossa--neuroradiologic and clinical aspects

Since the introduction of CT, the assessment of ventricular enlargement and follow-up examinations after shunt surgery have become easier. By means of CT coronary and sagittal reconstructions as well as nuclearmagnetic resonance, the pathologic-anatomic changes in malformations with Arnold-Chiari II deformity and Dandy-Walker syndrome are clearly demonstrated. With nuclear magnetic resonance the morphology of structures in the posterior cranial fossa are demonstrated three-dimensionally, and in comparison with CT the method has the advantage that it involves no exposure to radiation. On the other hand, dynamic conditions of the CSF circulation can be evaluated better on the computerized tomogram following intrathecal injection of contrast medium. On the basis of our experience we believe that the different methods are complementary and can often be combined when planning surgery.